The Muscle Disease Consortium AT LAKE N ON A
Philip Wood, D.V.M., Ph.D., professor in Sanford-Burnham’s Metabolic Disease Program.
In a new kind of translational-research venture, basic scientists, clinicians, and patient advocates are uniting to develop personalized therapies for rare childhood muscle disorders using “disease in a dish” and stem cell technologies. The Florida Muscle Disease Consortium, which met for the first time in December 2013 at Sanford-Burnham’s Lake Nona campus, is initially focusing on two types of muscle illnesses in children: muscular dystrophies and “orphan” diseases linked to inherited enzyme deficiencies in mitochondrial fatty-acid oxidation. Participants at the meeting discussed ways to harness patient-centric research at Sanford-Burnham, the Florida Hospital— Sanford-Burnham Translational Research Institute for Metabolism and Diabetes (TRIMD), the University of Florida, and Nemours Children’s Hospital with induced pluripotent stem cell (iPSC) models developed at Sanford-Burnham’s La Jolla campus. “We began by determining who’s doing what where,” said organizer Philip Wood, D.V.M, Ph.D., professor in SanfordBurnham’s Metabolic Disease Program, whose laboratory studies the role of abnormal fatty-acid metabolism in rare inherited diseases. “We’re involving people in specific parts of what we
collectively want to do,” explained Wood. Wood’s chief Institute collaborator is Pier Lorenzo Puri, M.D. Puri has led an effort in the Development, Aging, and Regeneration Program to create a muscle “disease in a dish” model that reproduces essential structural and functional aspects of muscular dystrophies and other inherited disorders, scrutinizing them and identifying targets for therapeutic interventions. One of the group’s goals is a shared biorepository for patient-derived cells. “We’re working with Florida Hospital through the TRI-MD to get samples from patients and family members to create ‘muscle in a dish’ models for these patients,” said Wood. “We can’t stress cells in the patient, but we can stress them in the dish to see if there are muscle-disease characteristics and evaluate changes.”
Pier Lorenzo Puri, M.D., associate professor in the Development, Aging, and Regeneration Program.
Puri, whose work has led to the discovery of drugs currently in clinical trials for the treatment of dystrophic patients, said, “By recapitulating patient-specific features of disease, this model could move our discoveries more quickly into clinical settings. All the work we do in the Consortium will be seen through the perspective of how we are helping patients through better diagnoses, identification of biomarkers, and ultimately cures.” www.sanfordburnham.org | PORTAL
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